Skeletal dysplasia
Gene: FAM58A

FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 13 females from 9 families reported. STAR syndrome is an X-linked dominant condition characterised by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations. Both copy number changes and single nucleotide variants reported. No affected males have been reported and are expected to be embryonic lethal. Current gene symbol is CCNQ.
Created: 20 Apr 2022, 3:47 a.m. | Last Modified: 20 Apr 2022, 3:47 a.m.

Panel Version: 0.13100

Mode of inheritance
Other

Phenotypes
syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2022, 3:47 a.m.
Last Modified: 20 Apr 2022, 3:47 a.m.
Panel version: Imported from Mendeliome panel version 0.13100

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

STAR syndrome 300707
STAR syndrome 300707

OMIM

300708

Clinvar variants

Variants in FAM58A

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM58A was added gene: FAM58A was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FAM58A were set to STAR syndrome 300707; STAR syndrome 300707

Skeletal dysplasia Gene: FAM58A